Fig. 3.

Next-generation and capillary sequencing of variant c.736G>A (p.Glu246Lys) inherited from father in CMH000254 (proband), CMH00255 (sibling), CMH000256 (mother) and CMH000257 (father) (A) and of variant c.349G>A (p.Ala117Thr) inherited from mother (B) viewed in the Integrative Genome Viewer [1,50].